| Metadata | |
|---|---|
| ID | DOID:0070057 |
| Name | Coffin-Siris syndrome 9 |
| Definition | An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. https://www.ncbi.nlm.nih.gov/pubmed/24886874 |
| Xrefs | |
| Synonyms |
autosomal dominant mental retardation 27 [EXACT] autosomal dominant non-syndromic intellectual disability 27 [EXACT] MRD27 [EXACT] |
| Parent Relationships |